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Aliases & Descriptions for AGL
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases GDE 2 , 3 , 5 OTTHUMP00000012500 2 OTTHUMP00000012501 2 OTTHUMP00000012502 2 OTTHUMP00000012503 2 OTTHUMP00000012504 2 OTTHUMP00000012505 2
Descriptions Glycogen debrancher 3 amylo-1, 6-glucosidase, 4-alpha-glucanotransferase 2 amylo-1,6-glucosidase, 4-alpha-glucanotransferase 2 glycogen debranching enzyme 2
Search outside databases for aliases for AGL genePrevious GC identifers: GC01P101113 GC01P099441 GC01P099606 GC01P099778 GC01P100027
Summaries for AGL (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for AGL : This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. Thisenzyme has two independent catalytic activities which occur at different sites on the protein: a4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene areassociated with glycogen storage disease although a wide range of enzymatic and clinicalvariability occurs which may be due to tissue-specific alternative splicing. Alternatively splicedtranscripts encoding different isoforms have been described. [provided by RefSeq] UniProtKB/Swiss-Prot: GDE_HUMAN, P35573 Function : Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation
Genomic Location for AGL
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the AGL gene Entrez Gene cytogenetic band: 1p21 Ensembl cytogenetic band: 1p21.2 HGNC cytogenetic band: 1p21 AGL Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01P100088:
(about GC identifiers )
Start:
100,088,228 bp from pter
End:
100,162,167 bp from pter
Size:
73,940 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000001.9 NT_032977.8 Proteins for AGL
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: GDE_HUMAN, P35573 (See
protein sequence )Recommended Name: Glycogen debranching enzyme Size : 1532 amino acids; 174764 Da
Subunit : Monomer
Secondary accessions : A6NCX7 A6NEK2 P78354 P78544 Q59H92 Q6AZ90 Q9UF08Alternative splicing : 3 isoforms : P35573-1 P35573-2 P35573-3
Post-translational modifications:
The N-terminus is blocked1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (6 alternative transcripts):
NP_000019.2 NP_000633.2 NP_000634.2 NP_000635.2 NP_000636.2 NP_000637.2 ENSEMBL proteins: ENSP00000309020 ENSP00000355106 ENSP00000294724 ENSP00000359184 ENSP00000359182 ENSP00000354971 ENSP00000359180 ENSP00000354635 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for AGL: Assays for AGL:
Protein
Domains/ Families for AGL(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P35573 ProtoNet protein and cluster: P35573
UniProtKB/Swiss-Prot: GDE_HUMAN, P35573 Similarity : Belongs to the glycogen debranching enzyme family
Gene Function for AGL
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6 ): NM_000028 Applied Biosystems Silencer ® siRNAs for AGL Sigma-Aldrich siRNA for AGL Sigma-Aldrich shRNA for AGL Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 6 ): NM_000028                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 6 ): NM_000028                                  untagged cDNA clones in CMV expression vector (see all 6 ): NM_000028  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000642 UniProtKB/Swiss-Prot: GDE_HUMAN, P35573 Function : Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation Catalytic activity : Transfers a segment of a (1->4)-alpha-D-glucan to a new position in anacceptor, which may be glucose or a (1->4)-alpha-D-glucan Catalytic activity : Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogenphosphorylase limit dextrin
Genatlas biochemistry entry for AGL :amylo-1,6-glucosidase (4-alpha-glucantransferase),debranching enzyme,160kDa,glycogen catabolism)with liver,muscle specific and four further minor alternatively spliced isoforms 5 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0004134 4-alpha-glucanotransferase activity
IEA -- GO:0004135 amylo-alpha-1,6-glucosidase activity
IEA -- GO:0016757 transferase activity, transferring glycosyl groups
IEA -- GO:0016798 hydrolase activity, acting on glycosyl bonds
IEA -- GO:0043169 cation binding
IEA --
About this table
Pathways & Interactions for AGL
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for AGL (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for AGL 5/19 Interacting proteins for AGL (ENSP00000309020 3 ) via UniProtKB, MINT, and/or STRING (see all 19
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005975 carbohydrate metabolic process
IEA -- GO:0005978 glycogen biosynthetic process
IEA -- GO:0008152 metabolic process
IEA --
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Drugs & Compounds for AGL (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Compounds for AGL available from Tocris Bioscience About this table 2 Novoseek chemical compound relationships for AGL gene
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Transcripts for AGL(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6 ): NM_000028 Sigma-Aldrich siRNA for AGL Sigma-Aldrich shRNA for AGL Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000028 NM_000642 NM_000643 NM_000644 NM_000645 NM_000646
REFSEQ mRNAs for AGL gene (6 alternative transcripts): NM_000028.2 NM_000642.2 NM_000643.2 NM_000644.2 NM_000645.2 NM_000646.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000028 NM_000642 NM_000643 NM_000644 NM_000645 NM_000646
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 6 ): NM_000028                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 6 ): NM_000028                                  untagged cDNA clones in CMV expression vector (see all 6 ): NM_000028  
Additional cDNA sequence: AB208867.1 AK130308.1 BC020705.1 BC057220.1 BC078663.1 M85168.1 U84007.1 U84008.1 U84009.1 U84010.1 U84011.1
8 DOTS entries : DT.95276494 DT.92430323 DT.100793896 DT.92430324 DT.444749 DT.100025294 DT.100793897 DT.121379454
24/170 AceView cDNA sequences (see all 170
):AL700198 CA945170 BQ217878 BM806841 T27720 BU595048 BQ045144 CF147446 CA390727 AL597963 BC020705 AV682868 BX499961 BC078663 BQ022584 C00487 BX482459 AA476828 AU116995 AI355368 AL596579 AK130308 BX498417 AW182611
highest scoring ESTs for AGL :U84007 U84011 AA017181 AA018377 AA233696 AA247620 AA337399 AA337598 AA443773 AA449229
Unigene Cluster for AGL: Amylo-1, 6-glucosidase, 4-alpha-glucanotransferase Hs.904 [show with all ESTs ] Unigene Representative Sequence: NM_000028 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AGL (see all 8
) ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^ SP1 :                                                     SP2 :     -                                                 SP3 :                                                     SP4 :                                                     SP5 :   -   -                                                
ExUns: 20 ^ 21 ^ 22 SP1 :       SP2 :       SP3 :       SP4 :       SP5 :      
About this scheme ECgene alternative splicing isoforms for AGL 8 Ensembl transcripts including schematic representations : ENST00000311030
ENST00000361915
ENST00000294724
ENST00000370165
ENST00000370163
ENST00000361302
ENST00000370161
ENST00000361522
Expression for AGL
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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AGL expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for AGL 1 / 2 / 3
4 probe-sets matching AGL gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TGAATTGTGASOURCE GeneReport for Unigene cluster: Hs.904 Expression variation in blood from EXPOLDB for AGL
UniProtKB/Swiss-Prot: GDE_HUMAN, P35573 Tissue specificity : Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereasmuscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3and 4). Isoforms 5 and 6 are present in both liver and muscle
Orthologs for AGL
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for AGL gene from 5/17 species (see all 17
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
AGL1
--
amylo-1, 6-glucosidase, 4-alpha-glucanotransferase
93.06(n) 93.86(a)
479931 XM_537057.2 XP_537057.1
chimpanzee (Pan troglodytes)
AGL1
--
amylo-1, 6-glucosidase, 4-alpha-glucanotransferase
99.7(n) 99.8(a)
469392 XM_524777.2 XP_524777.1
cow (Bos taurus)
AGL1
--
amylo-1, 6-glucosidase, 4-alpha-glucanotransferase
91.73(n) 92.56(a)
517397 XM_595566.3 XP_595566.3
rat (Rattus norvegicus)
Agl1
--
amylo-1,6-glucosidase, 4-alpha-glucanotransferase
87.18(n) 92.23(a)
362029 XM_342331.3 XP_342332.3
mouse (Mus musculus)
Agl1 , 5
35
amylo-1,6-glucosidase, 4-alpha-glucanotransferase1, 5
86.16(n) 1 91.91(a) 1
77559 1 NM_001081326.1 1 NP_001074795.1 1 AA681807 5 AI850929 5 (see all 19 )
About this table Species with no ortholog for AGL ENSEMBL Gene Tree for AGL Paralogs for AGL (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for AGL (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for AGL (up to first 250kb)
Disorders & Mutations for AGL
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 610860 disorders : 232400 232400 UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
Defects in AGL are the cause of glycogen storage disease type 3 (GSD3) [MIM:232400]; alsoknown as Forbes disease. GSD3 is a metabolic disorder associated with an accumulation of abnormalglycogen with short outer chains. Three GSD3 types are recognized: GSD type 3A patients lackglycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients areenzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranchingactivities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. GSD3 isclinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy
8 Novoseek disease relationships for AGL gene
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen storage disease type iii
98.91
64
15542399 (2), 16705713 (2), 17047887 (2), 19299494 (2) (see all 32 )
glycogen storage disease
89.78
9
11378828 (1), 9584265 (1), 17196294 (1), 10982190 (1) (see all 7 )
hepatomegaly
66.16
5
8990006 (1), 18717245 (1), 17895567 (1)
enzyme deficiency
64.62
1
9332391 (1)
hypoglycemia
59.98
5
8990006 (1), 18717245 (1), 17895567 (1)
myopathy
55.47
1
1580445 (1)
cardiomyopathy
48.05
4
17895567 (2), 1580445 (1), 18717245 (1)
liver cirrhosis
26.88
1
8553356 (1)
About this table Human Gene Mutation Database : AGL Genetic Association Database: AGL Human Genome Epidemiology Navigator: AGL (1 document)
Medical News for AGL (Possibly Related Articles in
Doctor's Guide )
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Publications for AGL (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/68 PubMed articles for AGL gene (see all 68
): Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. (PubMed id 8755644) 1, 3, 6 Shen J....Chen Y.T. (1996) Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region. (PubMed id 8954797) 1, 3, 4 Bao Y.... Chen Y.-T. (1996) Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. (PubMed id 9332391) 1, 3, 4 Bao Y.... Chen Y.-T. (1997) A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (PubMed id 8990006) 1, 3, 6 Shen J....Chen Y.T. (1997) Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. (PubMed id 11378828) 1, 3, 6 Santer R....Schaub J. (2001) Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. (PubMed id 10982190) 1, 3, 4 Okubo M.... Murase T. (2000) A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (PubMed id 8702417) 1, 3, 6 Okubo M....Murase T. (1996) Assignment of the human glycogen debrancher gene to chromosome 1p21. (PubMed id 1505983) 1, 2, 3 Yang-Feng T.L....Kao F.T. (1992) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient. (PubMed id 10571954) 3, 4 Okubo M....Murase T. (1999)
Search for AGL
(in PubMed ,
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Genome Databases showing AGL
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing AGL
(According to HUGE )
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Specialized Databases showing AGL (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=AGL
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-- Services for AGL (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for AGL:
Recombinant Proteins (AGL ) Antibodies (AGL )
Tocris compounds for AGL
Antibodies for AGL
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009